Mutagenetix > Incidental Mutation

Incidental Mutation 'R4050:Taf4'

314091

Institutional Source

Beutler Lab

Gene Symbol

Taf4

Ensembl Gene

ENSMUSG00000039117

Gene Name

TATA-box binding protein associated factor 4

Synonyms

TAFII130, Taf2c1, TAFII135, Taf4a

MMRRC Submission

040968-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4050 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

179553945-179618439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 179573805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 688 (G688C)

Ref Sequence

ENSEMBL: ENSMUSP00000038610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041618] [ENSMUST00000227325]

AlphaFold

E9QAP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000041618
AA Change: G688C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038610
Gene: ENSMUSG00000039117
AA Change: G688C

Domain	Start	End	E-Value	Type
low complexity region	28	44	N/A	INTRINSIC
low complexity region	64	181	N/A	INTRINSIC
SCOP:d1hqva_	312	325	6e-3	SMART
low complexity region	339	371	N/A	INTRINSIC
low complexity region	395	408	N/A	INTRINSIC
low complexity region	428	443	N/A	INTRINSIC
low complexity region	445	458	N/A	INTRINSIC
internal_repeat_1	465	500	2.85e-5	PROSPERO
low complexity region	537	547	N/A	INTRINSIC
TAFH	550	642	4.9e-54	SMART
internal_repeat_1	692	727	2.85e-5	PROSPERO
low complexity region	767	773	N/A	INTRINSIC
Pfam:TAF4	791	1039	3.5e-81	PFAM

Predicted Effect

not run
Transcript: ENSMUST00000131358
AA Change: G325C

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154961

Predicted Effect

probably benign
Transcript: ENSMUST00000227325

Meta Mutation Damage Score

0.1803

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for deletions of this marker die embryonically sometime around E9.5. Conditional expression of this allele in the epidermis causes skin barrier defects and defects in hair growth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,029,449 (GRCm39)	D473G	probably damaging	Het
Abca1	T	A	4: 53,044,144 (GRCm39)	Q1826L	probably damaging	Het
Apob	G	A	12: 8,065,390 (GRCm39)	V4087I	probably benign	Het
Atp10b	G	A	11: 43,150,363 (GRCm39)	A1354T	probably benign	Het
Baz1a	A	G	12: 54,976,404 (GRCm39)	V424A	probably benign	Het
Cdc20b	G	A	13: 113,200,819 (GRCm39)	D180N	probably benign	Het
Cep57l1	G	T	10: 41,605,356 (GRCm39)	R130S	probably damaging	Het
Ddb1	A	G	19: 10,605,171 (GRCm39)	D1053G	probably benign	Het
Ddx39a	T	A	8: 84,448,863 (GRCm39)	M246K	probably benign	Het
Dip2a	G	A	10: 76,114,441 (GRCm39)	T1013M	probably damaging	Het
Edar	G	T	10: 58,445,769 (GRCm39)	T265N	possibly damaging	Het
Fcgbpl1	T	C	7: 27,852,410 (GRCm39)	V1311A	possibly damaging	Het
Gbp8	T	A	5: 105,179,104 (GRCm39)	I132F	probably damaging	Het
Gga1	A	G	15: 78,775,691 (GRCm39)	D382G	probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gm10518	C	A	1: 179,631,378 (GRCm39)		probably benign	Het
Gm8074	G	A	9: 78,229,618 (GRCm39)		noncoding transcript	Het
H2-Eb1	T	A	17: 34,533,342 (GRCm39)	L188Q	probably damaging	Het
Heatr6	A	G	11: 83,646,599 (GRCm39)	S95G	probably damaging	Het
Hnf1a	T	A	5: 115,108,633 (GRCm39)	N91Y	probably damaging	Het
Ints10	C	T	8: 69,280,003 (GRCm39)	S710F	probably damaging	Het
Kazn	C	T	4: 141,834,215 (GRCm39)	E614K	unknown	Het
Kif26a	T	A	12: 112,146,350 (GRCm39)	M1812K	probably benign	Het
Lmo7	A	T	14: 102,139,713 (GRCm39)	K488*	probably null	Het
Mad1l1	A	G	5: 140,118,571 (GRCm39)	S457P	probably damaging	Het
Met	A	G	6: 17,533,983 (GRCm39)	T645A	probably benign	Het
Mpp4	T	C	1: 59,185,903 (GRCm39)		probably null	Het
Mycl	A	T	4: 122,890,632 (GRCm39)		probably null	Het
Ncbp1	G	A	4: 46,147,483 (GRCm39)	R110H	probably damaging	Het
Nfasc	G	T	1: 132,538,043 (GRCm39)		probably benign	Het
Nup35	A	G	2: 80,486,320 (GRCm39)	I212V	probably benign	Het
Or2y8	T	G	11: 52,035,961 (GRCm39)	Y132S	probably damaging	Het
Or4p20	A	G	2: 88,253,967 (GRCm39)	M134T	probably damaging	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Ovgp1	A	G	3: 105,893,912 (GRCm39)		probably benign	Het
Pcgf5	G	A	19: 36,420,311 (GRCm39)	S181N	probably damaging	Het
Plk2	C	T	13: 110,536,400 (GRCm39)	T617I	probably damaging	Het
Polq	A	T	16: 36,913,182 (GRCm39)		probably null	Het
Ppp1r1a	A	G	15: 103,440,881 (GRCm39)	L92P	probably damaging	Het
Pramel24	T	C	4: 143,453,692 (GRCm39)	S267P	probably benign	Het
Prg4	G	C	1: 150,330,510 (GRCm39)		probably benign	Het
Prune1	T	C	3: 95,169,542 (GRCm39)	K220R	possibly damaging	Het
Rab3gap2	G	A	1: 185,004,840 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sall3	G	A	18: 81,014,697 (GRCm39)	A1005V	probably benign	Het
Samd15	T	G	12: 87,247,406 (GRCm39)	N30K	probably benign	Het
Scn8a	A	T	15: 100,911,294 (GRCm39)	K905*	probably null	Het
Scrib	G	A	15: 75,923,322 (GRCm39)	R1245W	possibly damaging	Het
Skint4	C	T	4: 111,981,811 (GRCm39)	S260L	probably benign	Het
Slc29a2	A	T	19: 5,079,481 (GRCm39)	M339L	possibly damaging	Het
Slx9	T	C	10: 77,350,164 (GRCm39)	R75G	possibly damaging	Het
Spire1	G	T	18: 67,662,101 (GRCm39)		probably null	Het
Synpo2	T	C	3: 122,907,927 (GRCm39)	D463G	possibly damaging	Het
Tasor2	A	G	13: 3,623,507 (GRCm39)	S2148P	probably benign	Het
Tpte	T	A	8: 22,856,000 (GRCm39)	V600E	probably damaging	Het
Ttn	A	G	2: 76,651,510 (GRCm39)	V10953A	probably benign	Het
Vav2	T	C	2: 27,178,691 (GRCm39)	Y333C	probably benign	Het
Vav2	A	G	2: 27,181,415 (GRCm39)	S311P	probably damaging	Het
Zbtb26	A	C	2: 37,327,000 (GRCm39)	M1R	probably null	Het
Zfp26	G	A	9: 20,353,525 (GRCm39)	P88L	probably benign	Het
Zfp324	T	C	7: 12,704,794 (GRCm39)	F328L	probably damaging	Het

Other mutations in Taf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Taf4	APN	2	179,618,418 (GRCm39)	missense	unknown
IGL00517:Taf4	APN	2	179,566,206 (GRCm39)	splice site	probably benign
IGL02159:Taf4	APN	2	179,580,263 (GRCm39)	missense	probably benign	0.24
IGL02254:Taf4	APN	2	179,562,977 (GRCm39)	missense	probably benign	0.25
IGL03366:Taf4	APN	2	179,576,847 (GRCm39)	missense	probably damaging	1.00
R0049:Taf4	UTSW	2	179,565,884 (GRCm39)	missense	probably damaging	0.98
R0049:Taf4	UTSW	2	179,565,884 (GRCm39)	missense	probably damaging	0.98
R1267:Taf4	UTSW	2	179,571,117 (GRCm39)	missense	possibly damaging	0.46
R1495:Taf4	UTSW	2	179,574,820 (GRCm39)	missense	probably damaging	1.00
R1560:Taf4	UTSW	2	179,577,746 (GRCm39)	missense	probably benign	0.14
R1756:Taf4	UTSW	2	179,618,324 (GRCm39)	missense	unknown
R1893:Taf4	UTSW	2	179,574,823 (GRCm39)	missense	probably damaging	0.98
R1932:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R2213:Taf4	UTSW	2	179,577,683 (GRCm39)	critical splice donor site	probably null
R3896:Taf4	UTSW	2	179,573,807 (GRCm39)	missense	probably benign	0.45
R4448:Taf4	UTSW	2	179,577,764 (GRCm39)	missense	possibly damaging	0.65
R4736:Taf4	UTSW	2	179,566,287 (GRCm39)	missense	probably damaging	1.00
R5124:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R6155:Taf4	UTSW	2	179,555,317 (GRCm39)	missense	probably damaging	1.00
R6238:Taf4	UTSW	2	179,573,832 (GRCm39)	missense	probably damaging	0.97
R6292:Taf4	UTSW	2	179,565,780 (GRCm39)	missense	probably damaging	1.00
R7749:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7751:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7752:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7754:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7835:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7879:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7880:Taf4	UTSW	2	179,577,726 (GRCm39)	nonsense	probably null
R7880:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7883:Taf4	UTSW	2	179,571,088 (GRCm39)	missense	probably damaging	1.00
R7899:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7902:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R7905:Taf4	UTSW	2	179,573,822 (GRCm39)	missense	probably damaging	1.00
R9743:Taf4	UTSW	2	179,581,592 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- ATACAAAGTCGTGGGCCTCAAC -3'
(R):5'- TTACCTGCCTTGAGACAGCTG -3'

Sequencing Primer
(F):5'- TCGTGGGCCTCAACCTACAG -3'
(R):5'- TTGAGACAGCTGACCCCAG -3'

Posted On

2015-04-30